Title |
Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease
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Published in |
Genome Medicine, September 2012
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DOI | 10.1186/gm374 |
Pubmed ID | |
Authors |
Alejandro Sifrim, Jeroen KJ Van Houdt, Leon-Charles Tranchevent, Beata Nowakowska, Ryo Sakai, Georgios A Pavlopoulos, Koen Devriendt, Joris R Vermeesch, Yves Moreau, Jan Aerts |
Abstract |
ABSTRACT: The increasing size and complexity of exome/genome sequencing data requires new tools for clinical geneticists to discover disease-causing variants. Bottlenecks in identifying the causative variation include poor cross-sample querying, constantly changing functional annotation and not considering existing knowledge concerning the phenotype. We describe a methodology that facilitates exploration of patient sequencing data towards identification of causal variants under different genetic hypotheses. Annotate-it facilitates handling, analysis and interpretation of high-throughput single nucleotide variant data. We demonstrate our strategy using three case studies. Annotate-it is freely available and test data are accessible to all users at http://www.annotate-it.org. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 2 | 25% |
United Kingdom | 2 | 25% |
Australia | 1 | 13% |
France | 1 | 13% |
Belgium | 1 | 13% |
Germany | 1 | 13% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 8 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Belgium | 5 | 7% |
United States | 3 | 4% |
United Kingdom | 2 | 3% |
Italy | 1 | 1% |
Sweden | 1 | 1% |
France | 1 | 1% |
Germany | 1 | 1% |
Spain | 1 | 1% |
India | 1 | 1% |
Other | 0 | 0% |
Unknown | 60 | 79% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 22 | 29% |
Researcher | 17 | 22% |
Other | 7 | 9% |
Professor > Associate Professor | 7 | 9% |
Student > Bachelor | 5 | 7% |
Other | 17 | 22% |
Unknown | 1 | 1% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 32 | 42% |
Computer Science | 13 | 17% |
Medicine and Dentistry | 13 | 17% |
Biochemistry, Genetics and Molecular Biology | 11 | 14% |
Engineering | 2 | 3% |
Other | 3 | 4% |
Unknown | 2 | 3% |